Nanopore sequencing approach for immunoglobulin gene analysis in chronic lymphocytic leukemia

Abstract The evaluation of the somatic hypermutation of the clonotypic immunoglobulin heavy variable gene has become essential in the therapeutic management in chronic lymphocytic leukemia patients. European Research Initiative on Chronic Lymphocytic Leukemia promotes good practices and standardized...

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Autores principales: Crescenzio Francesco Minervini, Cosimo Cumbo, Immacolata Redavid, Maria Rosa Conserva, Paola Orsini, Antonella Zagaria, Luisa Anelli, Nicoletta Coccaro, Giuseppina Tota, Luciana Impera, Elisa Parciante, Francesco Tarantini, Annamaria Giordano, Giorgina Specchia, Pellegrino Musto, Francesco Albano
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Publicado: Nature Portfolio 2021
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Acceso en línea:https://doaj.org/article/9fb8cdff84594f8c80b607a419cdaf59
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spelling oai:doaj.org-article:9fb8cdff84594f8c80b607a419cdaf592021-12-02T15:29:03ZNanopore sequencing approach for immunoglobulin gene analysis in chronic lymphocytic leukemia10.1038/s41598-021-97198-32045-2322https://doaj.org/article/9fb8cdff84594f8c80b607a419cdaf592021-09-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-97198-3https://doaj.org/toc/2045-2322Abstract The evaluation of the somatic hypermutation of the clonotypic immunoglobulin heavy variable gene has become essential in the therapeutic management in chronic lymphocytic leukemia patients. European Research Initiative on Chronic Lymphocytic Leukemia promotes good practices and standardized approaches to this assay but often they are labor-intensive, technically complex, with limited in scalability. The use of next-generation sequencing in this analysis has been widely tested, showing comparable accuracy and distinct advantages. However, the adoption of the next generation sequencing requires a high sample number (run batching) to be economically convenient, which could lead to a longer turnaround time. Here we present data from nanopore sequencing for the somatic hypermutation evaluation compared to the standard method. Our results show that nanopore sequencing is suitable for immunoglobulin heavy variable gene mutational analysis in terms of sensitivity, accuracy, simplicity of analysis and is less time-consuming. Moreover, our work showed that the development of an appropriate data analysis pipeline could lower the nanopore sequencing error rate attitude.Crescenzio Francesco MinerviniCosimo CumboImmacolata RedavidMaria Rosa ConservaPaola OrsiniAntonella ZagariaLuisa AnelliNicoletta CoccaroGiuseppina TotaLuciana ImperaElisa ParcianteFrancesco TarantiniAnnamaria GiordanoGiorgina SpecchiaPellegrino MustoFrancesco AlbanoNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-7 (2021)
institution DOAJ
collection DOAJ
language EN
topic Medicine
R
Science
Q
spellingShingle Medicine
R
Science
Q
Crescenzio Francesco Minervini
Cosimo Cumbo
Immacolata Redavid
Maria Rosa Conserva
Paola Orsini
Antonella Zagaria
Luisa Anelli
Nicoletta Coccaro
Giuseppina Tota
Luciana Impera
Elisa Parciante
Francesco Tarantini
Annamaria Giordano
Giorgina Specchia
Pellegrino Musto
Francesco Albano
Nanopore sequencing approach for immunoglobulin gene analysis in chronic lymphocytic leukemia
description Abstract The evaluation of the somatic hypermutation of the clonotypic immunoglobulin heavy variable gene has become essential in the therapeutic management in chronic lymphocytic leukemia patients. European Research Initiative on Chronic Lymphocytic Leukemia promotes good practices and standardized approaches to this assay but often they are labor-intensive, technically complex, with limited in scalability. The use of next-generation sequencing in this analysis has been widely tested, showing comparable accuracy and distinct advantages. However, the adoption of the next generation sequencing requires a high sample number (run batching) to be economically convenient, which could lead to a longer turnaround time. Here we present data from nanopore sequencing for the somatic hypermutation evaluation compared to the standard method. Our results show that nanopore sequencing is suitable for immunoglobulin heavy variable gene mutational analysis in terms of sensitivity, accuracy, simplicity of analysis and is less time-consuming. Moreover, our work showed that the development of an appropriate data analysis pipeline could lower the nanopore sequencing error rate attitude.
format article
author Crescenzio Francesco Minervini
Cosimo Cumbo
Immacolata Redavid
Maria Rosa Conserva
Paola Orsini
Antonella Zagaria
Luisa Anelli
Nicoletta Coccaro
Giuseppina Tota
Luciana Impera
Elisa Parciante
Francesco Tarantini
Annamaria Giordano
Giorgina Specchia
Pellegrino Musto
Francesco Albano
author_facet Crescenzio Francesco Minervini
Cosimo Cumbo
Immacolata Redavid
Maria Rosa Conserva
Paola Orsini
Antonella Zagaria
Luisa Anelli
Nicoletta Coccaro
Giuseppina Tota
Luciana Impera
Elisa Parciante
Francesco Tarantini
Annamaria Giordano
Giorgina Specchia
Pellegrino Musto
Francesco Albano
author_sort Crescenzio Francesco Minervini
title Nanopore sequencing approach for immunoglobulin gene analysis in chronic lymphocytic leukemia
title_short Nanopore sequencing approach for immunoglobulin gene analysis in chronic lymphocytic leukemia
title_full Nanopore sequencing approach for immunoglobulin gene analysis in chronic lymphocytic leukemia
title_fullStr Nanopore sequencing approach for immunoglobulin gene analysis in chronic lymphocytic leukemia
title_full_unstemmed Nanopore sequencing approach for immunoglobulin gene analysis in chronic lymphocytic leukemia
title_sort nanopore sequencing approach for immunoglobulin gene analysis in chronic lymphocytic leukemia
publisher Nature Portfolio
publishDate 2021
url https://doaj.org/article/9fb8cdff84594f8c80b607a419cdaf59
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